Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality

Abstract

Joubert’s syndrome is a rare genetic disorder. It is an autosomal recessive neuro-developmental disorder involving mid and hind brain. This report describes a fetus at gestational age 16weeks+ 6 days, who presented with characteristic Molar tooth sign on the antenatal scan. This sign is a salient feature of Joubert syndrome (JS). Mostly the diagnosis of JS is made after birth. Few cases are diagnosed prenatally by ultrasound

Keywords

• Joubert syndrome, mortality, genetic disorder, brain malformation